Nicolas, A., Lucchetti-Miganeh, C., Ben Yaou, R., Kaplan, J. C., Chelly, J., Leturcq, F., Barloy-Hubler, F., Le Rumeur, E. :
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database
Orphanet J Rare Dis, 2012 ; 7 (1) : 45
Publications (1184)
Wahbi, K., Meune, C., Porcher, R., Becane, H. M., Lazarus, A., Laforet, P., Stojkovic, T., Behin, A., Radvanyi-Hoffmann, H., Eymard, B., Duboc, D. :
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease JAMA, 2012 ; 307 (12) : 1292-1301
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease JAMA, 2012 ; 307 (12) : 1292-1301
Baligand, C., Jouvion, G., Schackman, O., Gilson, H., Wary, C., Thissen, J. P., Carlier, P. G. :
Multiparametric functional NMR shows alterations associated with plasmid electrotransfer in mouse skeletal muscle J Gene Med, 2012 ; 14 (9-10) : 598-608
Multiparametric functional NMR shows alterations associated with plasmid electrotransfer in mouse skeletal muscle J Gene Med, 2012 ; 14 (9-10) : 598-608
Douniol, M., Jacquette, A., Cohen, D., Bodeau, N., Rachidi, L., Angeard, N., Cuisset, J. M., Vallee, L., Eymard, B., Plaza, M., Heron, D., Guile, J. M. :
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1 Dev Med Child Neurol, 2012 ; 54 (10) : 905-11
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1 Dev Med Child Neurol, 2012 ; 54 (10) : 905-11
Krom, Y. D., Dumonceaux, J., Mamchoui, K., den Hamer, B., Mariot, V., Negroni, E., Geng, L. N., Martin, N., Tawil, R., Tapscott, S. J., van Engelen, B. G., Mouly, V., Butler-Browne, G. S., van der Maarel, S. M. :
Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD Am J Pathol, 2012 ; 181 (4) : 1387-401
Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD Am J Pathol, 2012 ; 181 (4) : 1387-401
Riederer, I., Negroni, E., Bencze, M., Wolff, A., Aamiri, A., Di Santo, J. P., Silva-Barbosa, S. D., Butler-Browne, G., Savino, W., Mouly, V. :
Slowing Down Differentiation of Engrafted Human Myoblasts Into Immunodeficient Mice Correlates With Increased Proliferation and Migration Mol Ther, 2012 ; 20 (1) : 146-154
Slowing Down Differentiation of Engrafted Human Myoblasts Into Immunodeficient Mice Correlates With Increased Proliferation and Migration Mol Ther, 2012 ; 20 (1) : 146-154
Biancalana, V., Beggs, A. H., Das, S., Jungbluth, H., Kress, W., Nishino, I., North, K., Romero, N. B., Laporte, J. :
Clinical utility gene card for: Centronuclear and myotubular myopathies Eur J Hum Genet, 2012 ; 20 :
Clinical utility gene card for: Centronuclear and myotubular myopathies Eur J Hum Genet, 2012 ; 20 :
Geier, C, Schultze-Bahr, E, Bonne, G. :
Guiding the molecular diagnosis of hypertrophic cardiomyopathy J Thorac Cardiovasc Surg, 2012 ; 143 (5) : 1234
Guiding the molecular diagnosis of hypertrophic cardiomyopathy J Thorac Cardiovasc Surg, 2012 ; 143 (5) : 1234
Marston, S., Copeland, O., Gehmlich, K., Schlossarek, S., Carrrier, L. :
How do MYBPC3 mutations cause hypertrophic cardiomyopathy? J Muscle Res Cell Motil, 2012 ; 33 : 75-80
How do MYBPC3 mutations cause hypertrophic cardiomyopathy? J Muscle Res Cell Motil, 2012 ; 33 : 75-80
Ucar, A., Gupta, S. K., Fiedler, J., Erikci, E., Kardasinski, M., Batkai, S., Dangwal, S., Kumarswamy, R., Bang, C., Holzmann, A., Remke, J., Caprio, M., Jentzsch, C., Engelhardt, S., Geisendorf, S., Glas, C., Hofmann, T. G., Nessling, M., Richter, K., Schiffer, M., Carrier, L., Napp, L. C., Bauersachs, J., Chowdhury, K., Thum, T. :
The miRNA-212/132 family regulates both cardiac hypertrophy and cardiomyocyte autophagy Nat Commun, 2012 ; 3 : 1078
The miRNA-212/132 family regulates both cardiac hypertrophy and cardiomyocyte autophagy Nat Commun, 2012 ; 3 : 1078
